Melnick-Needles Syndrome (MNS)

Genetic disorder characterized by abnormal bone development. Bowing of the bones in the arms and legs is characteristic. Particular facial appearance includes hypertelorism, full cheeks, small facial bones, and severe micrognathia. Other clinical features include a relatively small chest cavity with irregular ribbon-like ribs, short clavicle, short stature, and narrow shoulders. Pectus excavatum is often present. Occasionally, dislocation of the hip occurs. May present hydronephrosis caused by urinary retention caused by small ureters. There is some suggestion that the entity is a form of the fronto-otopalatodigital osteodysplasia syndrome.

Osteodysplasty of Melnick and Needles; Melnick-Needles Osteodysplasty.

First described in 1966 by John Welnick, an American radiologist, and Carl F. Needles, an American physican.

Fewer than 50 persons described; seems to affect more females than males.

Either an X-linked dominant or autosomal sex-limited dominant trait. Otopalatodigital syndrome type II and MNS likely result from mutations in the same gene. The difference in expression would be explained by allelic heterogeneity in expression. Most patients are female, but disease severity is greater in males.

Some cases suggest that this condition is a generalized connective tissue disorder in which an increased content of collagen is found.

Clinically and radiologically.

Considerable heterogeneity, short stature, generalized bone dysplasia. Facial anomalies include a small face with prominent eyes appearing hyperteloric; broad nasal bridge with anteverted nares; micrognathia; sometimes cleft palate; full cheeks; and gingival hypertrophy. Small chest with ribbon-like ribs, sometimes pectus excavatum; bowing of long bones, mainly tibia and radius (metaphyseal flaring on radiograph), and short upper limbs; vertebral anomalies leading to scoliosis. In case of severe lung disease, secondary pulmonary hypertension. Mitral and/or tricuspid valve prolapse, hydronephrosis, omphalocele, hypoplastic kidneys, and urethral obstruction can be associated in some described cases.

Check airway for possible difficult laryngoscopy and tracheal intubation. It is important to obtain an echocardiography to exclude associated cardiac problem (mitral and/or tricuspid valve prolapse) or pulmonary hypertension. Preoperative chest physiotherapy to prevent postoperative complications.

The anesthetic management of a patient with mitral or tricuspid valve prolapse must be applied. In the presence of a child with recurrent pulmonary infection, special care must be taken because of increased risk for postoperative pulmonary complications. Be prepared for difficult tracheal intubation.

No known pharmacological implications.

Otopalatodigital (OPD) Syndrome Type I: Congenital association of coarse facies, posterior cleft palate, conduction deafness, clinodactyly on the fifth fingers, and broad big toes. The skull and limb are most often abnormal.

Otopalatodigital (OPD) Syndrome Type II: Congenital association of craniofacial and limb anomalies.

Fronto-Metaphyseal Dysplasia of Gorlin (FMD): Congenital syndrome involving multiple abnormalities of the face and airway, poorly developed musculature, and limited joint mobility.

Serpentine Fibula-Polycystic Kidney Syndrome: Probably X-linked dominant inherited disorder with normal intelligence characterized by S-shaped (serpentine-shaped) elongation of the fibulas, bowed long bones of forearms and lower legs, proportionate short stature, short neck, shield thorax with pectus excavatum and increased intermamillary distance (some features similar to Ullrich-Turner Syndrome), polycystic kidneys, large head with low-set ears, full cheeks, prominent eyes with megalocornea and ptosis, and micrognathia. Sensorineural deafness is not uncommon. Other features may include congenital cardiac defects (e.g., ASD and/or VSD, PDA), intestinal malrotation, joint laxity, and hirsutism. It has been suggested that SFPKS and Melnick-Needles Syndrome are allelic disorders.

Hajdu Cheney Syndrome: Very rare diffuse connective tissue disorder with osteolysis involving mainly head and musculoskeletal system.